Homozygous or compound heterozygous SDHA variants have been found in patients with Leigh syndrome (Bourgeron et al., 1995; Horvath et al., 2006; Pagnamenta et al., 2006; Parfait et al., 2000; Renkema et al., 2015), leukodystrophy (Alston et al., 2012; Renkema et al., 2015), cardiomyopathy (Levitas et al., 2010), and progressive neuromuscular decline (Ma et al., 2014). This evidence concerns the gene SDHA and Leigh syndrome.